ClinVar

NM_016292.3(TRAP1):c.1484G>A (p.Arg495His)

Genes:

TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3664359 (on Assembly GRCh38)
• Chr16: 3714360 (on Assembly GRCh37)

Preferred name:

NM_016292.3(TRAP1):c.1484G>A (p.Arg495His)

HGVS:

• NC_000016.10:g.3664359C>T
• NG_009285.2:g.57601C>T
• NG_033088.1:g.58239G>A
• NM_001272049.2:c.1325G>A
• NM_001387140.1:c.*1735C>T
• NM_016292.3:c.1484G>AMANE SELECT
• NP_001258978.1:p.Arg442His
• NP_057376.2:p.Arg495His
• NC_000016.9:g.3714360C>T
• NM_016292.2:c.1484G>A

This HGVS expression did not pass validation

Protein change:

R442H

Links:

dbSNP: rs746111043

NCBI 1000 Genomes Browser:

rs746111043

Molecular consequence:

• NM_001387140.1:c.*1735C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001272049.2:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016292.3:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]